guidebook. - Fanconi Anemia Research Fund

34
Fanconi Anemia: Guidelines for Diagnosis and Management
planning, prenatal diagnosis, and even preimplantation
genetic diagnosis.
Index of Suspicion
Physical appearance
The most frequent characteristic birth defects in FA, in
descending frequency from approximately 50 to 20 percent,
include skin hyperpigmentation and café au lait
spots; short stature; abnormal thumbs and radii; abnormal
head, eyes, kidneys, and ears. These data are from
1,865 case reports in the literature (Alter, unpublished)
and are biased by under- and over-reporting because
cases in the literature tend to focus on the unusual or
more sensational findings. Additional specific types of
anomalies in Fanconi anemia patients are listed below.
Although these types of anomalies may be present in
many other syndromes, FA should be “ruled in” or
“ruled out” in patients with these findings. However,
at least 25% of known FA patients have few or none of
these features. 2
Examples of Anomalies in Fanconi Anemia 1
Anomalies are listed in approximate order of frequency
within each category, as follows:
Skin: Generalized hyperpigmentation; café au lait
spots, hypopigmented areas
Microsomia: Short stature
Upper Limbs:
Thumbs: Absent or hypoplastic, bifid, rudimentary,
attached by a thread, triphalangeal
Radii: Absent or hypoplastic (only with abnormal
thumbs), absent or weak pulse
Hands: Hypoplastic thenar eminence, absent first
metacarpal
Ulnae: Dysplastic